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Preview	Issue Date	Title	Author(s)
	2022	The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature	Knight, L.S.W.; Mullany, S.; Taranath, D.A.; Ruddle, J.B.; Barnett, C.P.; Sallevelt, S.C.E.H.; Berry, E.C.; Marshall, H.N.; Hollitt, G.L.; Souzeau, E.; Craig, J.E.; Siggs, O.M.
	2021	Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility	Tudini, E.; Davidson, A.L.; Dressel, U.; Andrews, L.; Antill, Y.; Crook, A.; Field, M.; Gattas, M.; Harris, R.; Kirk, J.; Pachter, N.; Salmon, L.; Susman, R.; Townshend, S.; Trainer, A.H.; Tucker, K.M.; Mitchell, G.; James, P.A.; Ward, R.L.; Mar Fan, H.; et al.
	2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis	Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
	2015	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy	Muona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
	2000	Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome	Villard, L.; Fontes, M.; Ades, L.; Gecz, J.
	2005	Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)	Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.
	2002	Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation	Turner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
	2004	Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia	Shaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.
	2006	HOXD10 M319K mutation in a family with isolated congenital vertical Talus	Dobbs, M.; Gurnett, C.; Pierce, B.; Exner, G.; Robarge, J.; Morcuende, J.; Cole, W.; Templeton, P.; Foster, B.; Bowcock, A.
	2005	Unstable Robertsonian translocations der(13;15)(q10;q10): Heritable chromosome fission without phenotypic effect in two kindreds	Perry, J.; White, S.; Nouri, S.; Bain, S.; Hutchinson, R.; La, P.; Northrop, E.; Eyre, H.; Pertile, M.; Hocking, T.; Thompson, E.; Yu, S.; Choo, K.; Slater, H.